MMP9, matrix metallopeptidase 9, 4318

N. diseases: 1337; N. variants: 31
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3918242
rs3918242
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
Cardiovascular Diseases 0.020 1.000 2 2014 2019
dbSNP: rs201191171
rs201191171
0.925 0.080 20 46013279 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2234681
rs2234681
1.000 0.040 20 46008773 upstream gene variant ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC delins
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8125581
rs8125581
1.000 0.040 20 46010604 missense variant G/A snv 3.0E-04 3.4E-04
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
Cardiovascular Diseases 0.010 1.000 1 2014 2014